The reporter learned from the regular press conference of the Ministry of Health on the 10th that the Ministry of Health revised the original technical specifications and formed the "Newborn Disease Screening Technical Specifications" to further reduce birth defects.

According to reports, the latest version of the “Newborn Disease Screening Technical Specification” consists of a technical specification for the screening of neonatal genetic metabolic screens, a laboratory test specification for neonatal genetic metabolic screening, phenylketonuria, and congenital thyroid function. Technical specifications for diagnosis and treatment of hypothyroidism, procedures for screening for neonatal genetic metabolic disease and informed consent for screening, technical specifications for neonatal hearing screening, technical procedures for neonatal hearing screening, and informed consent forms for screening.

The new version of the "Newborn Disease Screening Technical Specification" mainly specifies and modifies screening organization, diagnosis and treatment institutions, personnel and equipment requirements, and technical processes. Compared with the 2004 edition of the technical specifications, the new edition of the technical specification added the “Blood collection agency and personnel responsibilities” in the “Technical Code for the Collection of Blood Tablets for Neonatal Genetic Metabolic Disease Screening”, emphasizing biosafety in the “Blood Collection Procedure”. In the "Technical Code for the Diagnosis and Treatment of Phenylketonuria and Congenital Hypothyroidism," a "recall system" was added; in terms of diagnosis, the content of "tetrahydrobiopterin deficiency (BH4D)" was added.

In addition, the new version of the technical specification added “screening for informed consent” in the “Genetic Screening Procedure for Neonatal Infant Metabolic Diseases”, and added links for follow-up and rehabilitation, as well as informed information in the Technical Specifications for Newborn Hearing Screening. consent.

Screening for neonatal diseases is one of the three preventive measures to reduce birth defects and improve the quality of the birth population in China. At present, the birth defect rate in China is not optimistic. The annual birth defect rate is 4% to 6%.